#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACLY	47	genome.wustl.edu	37	17	40054937	40054937	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr17:40054937G>T	ENST00000352035.2	-	12	1415	c.1285C>A	c.(1285-1287)Ccc>Acc	p.P429T	ACLY_ENST00000353196.1_Missense_Mutation_p.P429T|ACLY_ENST00000537919.1_Missense_Mutation_p.P168T|ACLY_ENST00000393896.2_Missense_Mutation_p.P429T|ACLY_ENST00000590151.1_Missense_Mutation_p.P429T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	429					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCGCTGTGGGTGGCTGGTTG	0.602																																					Colon(64;807 1396 15971 30971)	dbGAP											0													98.0	79.0	85.0					17																	40054937		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1285C>A	17.37:g.40054937G>T	ENSP00000253792:p.Pro429Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.P429T	ENST00000352035.2	37	c.1285	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396633	0.62177	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.87966	-1.33;-1.33;-2.32;-1.33	5.23	5.23	0.72850	.	0.049407	0.85682	D	0.000000	D	0.87577	0.6212	L	0.48642	1.525	0.80722	D	1	P;B;D;B;P	0.56035	0.799;0.361;0.974;0.076;0.883	B;B;P;B;B	0.50352	0.343;0.118;0.638;0.047;0.399	D	0.84838	0.0806	10	0.22706	T	0.39	.	19.1615	0.93535	0.0:0.0:1.0:0.0	.	168;483;483;429;429	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	429;483;429;168;429	ENSP00000253792:P429T;ENSP00000345398:P429T;ENSP00000445349:P168T;ENSP00000377474:P429T	ENSP00000253792:P429T	P	-	1	0	ACLY	37308463	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.443000	0.97568	2.607000	0.88179	0.655000	0.94253	CCC	ACLY	-	pirsf_ATP-citrate_synthase	ENSG00000131473		0.602	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	75	0.00	0	G	NM_001096		40054937	40054937	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	missense	78	36.59	45	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27057874	27057874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:27057874C>T	ENST00000324856.7	+	3	1953	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q528*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q145*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	528					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCACATCAGCAGTCCCC	0.617			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													244.0	237.0	239.0					1																	27057874		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1582C>T	1.37:g.27057874C>T	ENSP00000320485:p.Gln528*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q528*	ENST00000324856.7	37	c.1582	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.432722	0.96150	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.231855	0.38326	N	0.001734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.1739	19.4471	0.94852	0.0:1.0:0.0:0.0	rs35170002	.	.	.	X	528;528;145	.	ENSP00000320485:Q528X	Q	+	1	0	ARID1A	26930461	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.531000	0.53546	2.824000	0.97209	0.655000	0.94253	CAG	ARID1A	-	NULL	ENSG00000117713		0.617	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	90	0.00	0	C	NM_139135		27057874	27057874	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	nonsense	48	47.83	44	SNP	1.000	T
C12orf74	338809	genome.wustl.edu	37	12	93100574	93100574	+	Frame_Shift_Del	DEL	C	C	-	rs564917988		TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr12:93100574delC	ENST00000397833.3	+	2	618	c.167delC	c.(166-168)accfs	p.T56fs	C12orf74_ENST00000544406.2_Frame_Shift_Del_p.T56fs	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	56										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGATTAAGGACCCGTGGCTGT	0.617																																						dbGAP											0													46.0	48.0	48.0					12																	93100574		1898	4107	6005	-	-	-	SO:0001589	frameshift_variant	0			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.167delC	12.37:g.93100574delC	ENSP00000380933:p.Thr56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H4P0	Frame_Shift_Del	DEL	NULL	p.R57fs	ENST00000397833.3	37	c.167	CCDS41819.1	12																																																																																			C12orf74	-	NULL	ENSG00000214215		0.617	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C12orf74	HGNC	protein_coding	OTTHUMT00000407285.1	25	0.00	0	C	NM_001037671		93100574	93100574	+1	no_errors	ENST00000397833	ensembl	human	known	69_37n	frame_shift_del	33	47.62	30	DEL	0.224	-
PERM1	84808	genome.wustl.edu	37	1	914764	914765	+	Frame_Shift_Ins	INS	-	-	G	rs371075068		TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:914764_914765insG	ENST00000341290.2	-	3	1338_1339	c.1303_1304insC	c.(1303-1305)cggfs	p.R435fs	C1orf170_ENST00000433179.2_Frame_Shift_Ins_p.R455fs			Q5SV97	PERM1_HUMAN		549					regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGGTGGGGCCGGGGCCCGACA	0.752																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000341290.2:c.1304dupC	1.37:g.914768_914768dupG	ENSP00000343864:p.Arg435fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVZ7|Q9BRF2|S5G239	Frame_Shift_Ins	INS	NULL	p.R455fs	ENST00000341290.2	37	c.1364_1363		1																																																																																			C1orf170	-	NULL	ENSG00000187642		0.752	C1orf170-001	PUTATIVE	basic|appris_candidate	protein_coding	C1orf170	HGNC	protein_coding	OTTHUMT00000097943.2	21	0.00	0	-			914764	914765	-1	no_errors	ENST00000433179	ensembl	human	known	69_37n	frame_shift_ins	24	29.41	10	INS	0.032:0.262	G
C2CD3	26005	genome.wustl.edu	37	11	73785550	73785550	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr11:73785550G>A	ENST00000334126.7	-	24	4925	c.4699C>T	c.(4699-4701)Ccc>Tcc	p.P1567S	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1567S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1567					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCATGAGTGGGCTCAAGGTGT	0.522																																						dbGAP											0													84.0	74.0	77.0					11																	73785550		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4699C>T	11.37:g.73785550G>A	ENSP00000334379:p.Pro1567Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.P1567S	ENST00000334126.7	37	c.4699		11	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777421	0.31411	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.15139	2.79;2.84;2.45	5.51	4.59	0.56863	.	0.382752	0.29139	N	0.013022	T	0.34600	0.0903	L	0.54323	1.7	0.09310	N	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.04467	-1.0949	10	0.34782	T	0.22	-3.4619	13.7717	0.63029	0.075:0.0:0.925:0.0	.	1567	Q4AC94-1	.	S	1567;1567;1548;375	ENSP00000334379:P1567S;ENSP00000323339:P1567S;ENSP00000388750:P375S	ENSP00000323339:P1567S	P	-	1	0	C2CD3	73463198	0.634000	0.27190	0.391000	0.26233	0.504000	0.33889	2.500000	0.45381	2.756000	0.94617	0.655000	0.94253	CCC	C2CD3	-	NULL	ENSG00000168014		0.522	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		67	0.00	0	G	NM_015531		73785550	73785550	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	1423	11.28	181	SNP	0.171	A
CABIN1	23523	genome.wustl.edu	37	22	24432554	24432554	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr22:24432554A>C	ENST00000398319.2	+	3	406	c.21A>C	c.(19-21)ttA>ttC	p.L7F	CABIN1_ENST00000405822.2_Missense_Mutation_p.L7F|CABIN1_ENST00000263119.5_Missense_Mutation_p.L7F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	7					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGCAGCCTTAAATGCCAGCT	0.433																																						dbGAP											0													254.0	248.0	250.0					22																	24432554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.21A>C	22.37:g.24432554A>C	ENSP00000381364:p.Leu7Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L7F	ENST00000398319.2	37	c.21	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716248	0.68844	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.75050	-0.46;-0.9;-0.63;-0.46;-0.9	4.81	1.02	0.19986	.	0.000000	0.64402	D	0.000002	T	0.74997	0.3790	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.72711	-0.4211	10	0.87932	D	0	.	6.8532	0.24026	0.5769:0.0:0.4231:0.0	.	7;7;7;7	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	F	7	ENSP00000394209:L7F;ENSP00000263119:L7F;ENSP00000384694:L7F;ENSP00000412389:L7F;ENSP00000381364:L7F	ENSP00000263119:L7F	L	+	3	2	CABIN1	22762554	0.956000	0.32656	1.000000	0.80357	0.995000	0.86356	0.130000	0.15850	0.318000	0.23185	0.456000	0.33151	TTA	CABIN1	-	NULL	ENSG00000099991		0.433	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	62	0.00	0	A	NM_012295		24432554	24432554	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	66	45.45	55	SNP	1.000	C
CDH1	999	genome.wustl.edu	37	16	68855995	68855996	+	Frame_Shift_Ins	INS	-	-	T	rs587782517		TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr16:68855995_68855996insT	ENST00000261769.5	+	12	1994_1995	c.1803_1804insT	c.(1804-1806)ttcfs	p.F602fs	CDH1_ENST00000422392.2_Frame_Shift_Ins_p.F541fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	602	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAACTATATTCTTCTGTGAGAG	0.48			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1805dupT	16.37:g.68855997_68855997dupT	ENSP00000261769:p.Phe602fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C602fs	ENST00000261769.5	37	c.1803_1804	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.480	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	61	0.00	0	-	NM_004360		68855995	68855996	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	30	53.12	34	INS	0.000:0.327	T
CEP152	22995	genome.wustl.edu	37	15	49048645	49048645	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr15:49048645G>A	ENST00000380950.2	-	20	2987	c.2800C>T	c.(2800-2802)Ctt>Ttt	p.L934F	CEP152_ENST00000399334.3_Missense_Mutation_p.L934F|CEP152_ENST00000325747.5_Missense_Mutation_p.L841F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	934					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCTTCTGAAGAGAATGAATC	0.393																																						dbGAP											0													80.0	72.0	75.0					15																	49048645		1822	4078	5900	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2800C>T	15.37:g.49048645G>A	ENSP00000370337:p.Leu934Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L934F	ENST00000380950.2	37	c.2800	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450066	0.63290	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.67698	-0.28;-0.21;-0.2	5.68	3.78	0.43462	.	0.070358	0.56097	D	0.000028	T	0.78065	0.4225	M	0.73598	2.24	0.39274	D	0.964443	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.995;0.999	T	0.80137	-0.1508	10	0.66056	D	0.02	-10.9181	7.9582	0.30055	0.1397:0.0:0.7288:0.1315	.	841;934;934	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	F	934;841;934	ENSP00000370337:L934F;ENSP00000321000:L841F;ENSP00000382271:L934F	ENSP00000321000:L841F	L	-	1	0	CEP152	46835937	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.092000	0.57707	1.538000	0.49270	0.591000	0.81541	CTT	CEP152	-	NULL	ENSG00000103995		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	41	0.00	0	G	NM_014985		49048645	49048645	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	0.999	A
CNTNAP3	79937	genome.wustl.edu	37	9	39178266	39178266	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr9:39178266C>G	ENST00000297668.6	-	5	703	c.630G>C	c.(628-630)ttG>ttC	p.L210F	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L122F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L210F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L210F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L210F|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	210	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTAAATTTCAAAGAAATAA	0.338																																						dbGAP											0													72.0	81.0	78.0					9																	39178266		2203	4290	6493	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.630G>C	9.37:g.39178266C>G	ENSP00000297668:p.Leu210Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L210F	ENST00000297668.6	37	c.630	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269221	0.23221	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	3.16	2.14	0.27477	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);	.	.	.	.	T	0.71643	0.3364	L	0.45352	1.415	0.25074	N	0.990974	B;B;P;B;B	0.34800	0.203;0.2;0.469;0.386;0.2	B;B;B;B;B	0.42386	0.143;0.167;0.386;0.287;0.109	T	0.60265	-0.7297	9	0.29301	T	0.29	.	7.0216	0.24916	0.188:0.6274:0.1845:0.0	.	210;210;210;210;210	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	F	210;210;122;210;210;122	ENSP00000297668:L210F;ENSP00000366884:L210F;ENSP00000350863:L122F;ENSP00000320728:L210F;ENSP00000366887:L210F	ENSP00000297668:L210F	L	-	3	2	CNTNAP3	39168266	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.835000	0.27531	1.740000	0.51718	0.563000	0.77884	TTG	CNTNAP3	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.338	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	114	0.00	0	C	NM_033655		39178266	39178266	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	90	26.83	33	SNP	1.000	G
CNTRL	11064	genome.wustl.edu	37	9	123929866	123929866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr9:123929866C>T	ENST00000373855.1	+	37	6015	c.5755C>T	c.(5755-5757)Cag>Tag	p.Q1919*	CNTRL_ENST00000373850.1_Nonsense_Mutation_p.Q1367*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.Q1919*			Q7Z7A1	CNTRL_HUMAN	centriolin	1919					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAAGACTGTCAGAAAGAAGA	0.438																																						dbGAP											0													72.0	64.0	67.0					9																	123929866		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5755C>T	9.37:g.123929866C>T	ENSP00000362962:p.Gln1919*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.Q1919*	ENST00000373855.1	37	c.5755	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.711991	0.98447	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	.	.	.	6.07	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	15.9231	0.79590	0.0:0.8645:0.1355:0.0	.	.	.	.	X	1919;1919;1919;675;101;1367;601	.	ENSP00000238341:Q1919X	Q	+	1	0	CNTRL	122969687	0.993000	0.37304	0.882000	0.34594	0.165000	0.22458	2.633000	0.46519	1.536000	0.49237	0.655000	0.94253	CAG	CNTRL	-	NULL	ENSG00000119397		0.438	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	41	0.00	0	C	NM_007018		123929866	123929866	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	nonsense	43	29.51	18	SNP	0.998	T
DDN	23109	genome.wustl.edu	37	12	49390678	49390678	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr12:49390678C>T	ENST00000421952.2	-	2	2002	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	661	Interaction with CD2AP and NPHS1. {ECO:0000250}.		E -> G (in dbSNP:rs10783299).			cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TTTCCAACCTCGGGCAGGGTC	0.602											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													37.0	34.0	35.0					12																	49390678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1981G>A	12.37:g.49390678C>T	ENSP00000390590:p.Glu661Lys	Somatic	961	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E661K	ENST00000421952.2	37	c.1981	CCDS31791.2	12	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446288	0.43429	.	.	ENSG00000181418	ENST00000421952	T	0.45276	0.9	4.55	2.69	0.31865	.	1.555000	0.03978	N	0.292861	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.24870	-1.0148	10	0.49607	T	0.09	-28.7637	9.4615	0.38787	0.1355:0.6867:0.1778:0.0	.	661	O94850	DEND_HUMAN	K	661	ENSP00000390590:E661K	ENSP00000390590:E661K	E	-	1	0	DDN	47676945	0.004000	0.15560	0.003000	0.11579	0.297000	0.27493	0.984000	0.29565	0.628000	0.30357	0.462000	0.41574	GAG	DDN	-	NULL	ENSG00000181418		0.602	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDN	HGNC	protein_coding	OTTHUMT00000343335.1	42	0.00	0	C			49390678	49390678	-1	no_errors	ENST00000421952	ensembl	human	known	69_37n	missense	52	37.35	31	SNP	0.000	T
FAT4	79633	genome.wustl.edu	37	4	126237986	126237986	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr4:126237986C>G	ENST00000394329.3	+	1	433	c.420C>G	c.(418-420)atC>atG	p.I140M		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCCCTCTATCGTGGTCACTT	0.612											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													31.0	36.0	35.0					4																	126237986		2034	4202	6236	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.420C>G	4.37:g.126237986C>G	ENSP00000377862:p.Ile140Met	Somatic	1548	WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I140M	ENST00000394329.3	37	c.420	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903983	0.33628	.	.	ENSG00000196159	ENST00000394329	T	0.61510	0.1	5.2	0.632	0.17705	Cadherin (2);Cadherin-like (1);	0.000000	0.34853	U	0.003639	T	0.61887	0.2383	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59532	-0.7437	10	0.37606	T	0.19	.	1.2641	0.02007	0.1417:0.3678:0.1388:0.3517	.	140	Q6V0I7	FAT4_HUMAN	M	140	ENSP00000377862:I140M	ENSP00000377862:I140M	I	+	3	3	FAT4	126457436	0.335000	0.24748	0.989000	0.46669	0.626000	0.37791	-0.354000	0.07681	0.478000	0.27488	0.655000	0.94253	ATC	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.612	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	29	0.00	0	C	NM_024582		126237986	126237986	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	43	41.89	31	SNP	0.995	G
FBXO16	157574	genome.wustl.edu	37	8	28286174	28286174	+	3'UTR	SNP	T	T	G	rs1055741	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr8:28286174T>G	ENST00000380254.2	-	0	1097				FBXO16_ENST00000346498.2_Missense_Mutation_p.D296A|FBXO16_ENST00000518734.1_3'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16											large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GGTGGCAGTGTCTGGGAGTCC	0.542													G|||	3558	0.710463	0.9198	0.6066	5008	,	,		16132	0.8185		0.4274	False		,,,				2504	0.681					dbGAP											0													29.0	44.0	39.0					8																	28286174		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.*70A>C	8.37:g.28286174T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D296A	ENST00000380254.2	37	c.887	CCDS6068.1	8	1458	0.6675824175824175	445	0.9044715447154471	220	0.6077348066298343	467	0.8164335664335665	326	0.43007915567282323	G	0.027	-1.365619	0.01235	.	.	ENSG00000214050	ENST00000346498	T	0.13901	2.55	4.06	2.2	0.27929	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.32877	-0.9890	5	0.02654	T	1	.	4.7593	0.13100	0.1048:0.0:0.4946:0.4006	rs1055741;rs3196234;rs59647921	.	.	.	A	296	ENSP00000341416:D296A	ENSP00000341416:D296A	D	-	2	0	FBXO16	28342093	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.394000	0.20834	0.250000	0.21479	-0.352000	0.07741	GAC	FBXO16	-	NULL	ENSG00000214050		0.542	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219988.2	26	0.00	0	T	NM_172366		28286174	28286174	-1	no_errors	ENST00000346498	ensembl	human	novel	69_37n	missense	28	12.50	4	SNP	0.004	G
GLI4	2738	genome.wustl.edu	37	8	144358399	144358399	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr8:144358399G>A	ENST00000523522.1	+	3	595	c.556G>A	c.(556-558)Gag>Aag	p.E186K	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.E186K|ZFP41_ENST00000522452.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	186					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E186Q(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACAGGTGCGAGGCCTGCGG	0.706																																						dbGAP											1	Substitution - Missense(1)	lung(1)											9.0	10.0	9.0					8																	144358399		2177	4250	6427	-	-	-	SO:0001583	missense	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.556G>A	8.37:g.144358399G>A	ENSP00000430987:p.Glu186Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E186K	ENST00000523522.1	37	c.556	CCDS6398.1	8	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741124	0.30865	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.07216	3.21;3.21	3.87	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	N	0.21448	0.665	0.09310	N	1	P	0.35628	0.513	B	0.15052	0.012	T	0.31503	-0.9941	9	0.11794	T	0.64	.	7.2377	0.26079	0.1205:0.0:0.8795:0.0	.	186	P10075	GLI4_HUMAN	K	186	ENSP00000345024:E186K;ENSP00000430987:E186K	ENSP00000345024:E186K	E	+	1	0	GLI4	144429774	0.000000	0.05858	0.893000	0.35052	0.822000	0.46500	-1.312000	0.02720	1.970000	0.57323	0.462000	0.41574	GAG	GLI4	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000250571		0.706	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	47	0.00	0	G			144358399	144358399	+1	no_errors	ENST00000340042	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.075	A
GOLGA6L10	647042	genome.wustl.edu	37	15	82635510	82635510	+	Missense_Mutation	SNP	C	C	A	rs555019600		TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr15:82635510C>A	ENST00000439287.4	-	8	1369	c.1270G>T	c.(1270-1272)Gtc>Ttc	p.V424F		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	424										endometrium(1)|kidney(4)	5						CCTTGTGGGACTGGGGCTCCA	0.647																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.1270G>T	15.37:g.82635510C>A	ENSP00000388606:p.Val424Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.V424F	ENST00000439287.4	37	c.1270	CCDS45325.1	15	.	.	.	.	.	.	.	.	.	.	.	10.54	1.377898	0.24944	.	.	ENSG00000205281	ENST00000439287	T	0.37235	1.21	.	.	.	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.50467	P	1.2999999999996348E-4	.	.	.	.	.	.	T	0.16041	-1.0416	4	0.66056	D	0.02	.	.	.	.	.	.	.	.	F	424	ENSP00000388606:V424F	ENSP00000388606:V424F	V	-	1	0	GOLGA6L10	80422565	0.952000	0.32445	0.012000	0.15200	0.012000	0.07955	0.570000	0.23653	-1.660000	0.01486	-1.643000	0.00768	GTC	GOLGA6L10	-	NULL	ENSG00000205281		0.647	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L10	HGNC	protein_coding	OTTHUMT00000419403.2	12	0.00	0	C	NM_001164465		82635510	82635510	-1	no_errors	ENST00000439287	ensembl	human	known	69_37n	missense	4	42.86	3	SNP	0.879	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657797	72657797	+	RNA	SNP	C	C	T	rs143962837	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr7:72657797C>T	ENST00000425256.1	-	0	2114									GTF2I repeat domain containing 2 pseudogene 1																		taggaacacccggatcaggtc	0.488													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657797C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-	ENSG00000214544		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	92	0.00	0	C	NR_002164		72657797	72657797	-1	no_errors	ENST00000425256	ensembl	human	known	69_37n	rna	131	12.67	19	SNP	0.908	T
BGLT3	103344929	genome.wustl.edu	37	11	5263362	5263362	+	RNA	SNP	T	T	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr11:5263362T>G	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							AGTGGTCTTGTGGGCTACAGC	0.443																																						dbGAP											0																																										-	-	-			0																															11.37:g.5263362T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000564523.1	37	NULL		11																																																																																			HBBP1	-	-	ENSG00000229988		0.443	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	HBBP1	HGNC	sense_overlapping	OTTHUMT00000422245.1	38	0.00	0	T			5263362	5263362	-1	no_errors	ENST00000454892	ensembl	human	known	69_37n	rna	24	41.46	17	SNP	0.906	G
COL1A1	1277	genome.wustl.edu	37	17	48258285	48258285	+	IGR	SNP	A	A	G	rs558957083|rs528269417	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr17:48258285A>G	ENST00000225964.5	-	0	6727				HILS1_ENST00000504307.1_RNA	NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGTGCTGGGGAAAAAAAAAAA	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						A|||	74	0.0147764	0.0272	0.0115	5008	,	,		14493	0.002		0.0219	False		,,,				2504	0.0061					dbGAP		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0																																										-	-	-	SO:0001628	intergenic_variant	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674		17.37:g.48258285A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	RNA	SNP	-	NULL	ENST00000225964.5	37	NULL	CCDS11561.1	17																																																																																			HILS1	-	-	ENSG00000188662		0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILS1	HGNC	protein_coding	OTTHUMT00000309036.2	33	0.00	0	A			48258285	48258285	-1	no_errors	ENST00000504307	ensembl	human	known	69_37n	rna	48	11.11	6	SNP	0.000	G
IFT27	11020	genome.wustl.edu	37	22	37172131	37172131	+	5'UTR	SNP	G	G	A	rs2187740	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr22:37172131G>A	ENST00000433985.2	-	0	41				IFT27_ENST00000476548.1_5'UTR|IFT27_ENST00000340630.5_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27						small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TACCGGGCCGGATGCACTCTC	0.647													A|||	440	0.0878594	0.3192	0.0231	5008	,	,		11694	0.001		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	protein-coding gene	gene with protein product		615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.-380C>T	22.37:g.37172131G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60897	RNA	SNP	-	NULL	ENST00000433985.2	37	NULL	CCDS54523.1	22																																																																																			IFT27	-	-	ENSG00000100360		0.647	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT27	HGNC	protein_coding		34	0.00	0	G	NM_006860		37172131	37172131	-1	no_errors	ENST00000476548	ensembl	human	known	69_37n	rna	28	12.50	4	SNP	0.000	A
JMJD1C	221037	genome.wustl.edu	37	10	64974188	64974188	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr10:64974188G>C	ENST00000399262.2	-	8	1957	c.1739C>G	c.(1738-1740)aCa>aGa	p.T580R	JMJD1C_ENST00000542921.1_Missense_Mutation_p.T398R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.T361R|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T361R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	580					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAAGCATTTGTAACACTTGA	0.368																																						dbGAP											0													86.0	78.0	81.0					10																	64974188		1872	4120	5992	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1739C>G	10.37:g.64974188G>C	ENSP00000382204:p.Thr580Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.T580R	ENST00000399262.2	37	c.1739	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	5.177	0.218136	0.09810	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.03	-1.09	0.09904	.	0.957263	0.08775	N	0.895586	T	0.20455	0.0492	N	0.14661	0.345	0.20563	N	0.999881	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18618	-1.0331	10	0.33141	T	0.24	1.0793	1.9152	0.03295	0.4238:0.1754:0.2925:0.1082	.	580;398	Q15652;A0T124	JHD2C_HUMAN;.	R	580;361;361;398	ENSP00000382204:T580R;ENSP00000384990:T361R;ENSP00000382195:T361R;ENSP00000444682:T398R	ENSP00000382195:T361R	T	-	2	0	JMJD1C	64644194	0.148000	0.22702	0.096000	0.21009	0.677000	0.39632	0.401000	0.20948	-0.342000	0.08363	-1.202000	0.01658	ACA	JMJD1C	-	NULL	ENSG00000171988		0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	25	0.00	0	G	NM_004241		64974188	64974188	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	19	60.42	29	SNP	0.556	C
KCNT2	343450	genome.wustl.edu	37	1	196342320	196342320	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:196342320G>C	ENST00000294725.9	-	14	2268	c.1353C>G	c.(1351-1353)tgC>tgG	p.C451W	KCNT2_ENST00000367431.4_Missense_Mutation_p.C451W|KCNT2_ENST00000367433.5_Missense_Mutation_p.C451W|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.C451W|KCNT2_ENST00000451324.2_Missense_Mutation_p.C62W			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	451	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTTGCTGGGCATATACAGT	0.284																																						dbGAP											0													92.0	94.0	93.0					1																	196342320		2203	4290	6493	-	-	-	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1353C>G	1.37:g.196342320G>C	ENSP00000294725:p.Cys451Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.C451W	ENST00000294725.9	37	c.1353	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765676	0.49574	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.74	3.88	0.44766	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.66742	0.2820	M	0.82517	2.595	0.80722	D	1	D;P;B;D	0.64830	0.994;0.854;0.054;0.994	D;P;B;D	0.79784	0.993;0.631;0.243;0.993	T	0.67673	-0.5610	10	0.87932	D	0	-13.1736	7.6349	0.28261	0.3145:0.0:0.6855:0.0	.	451;451;451;451	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	W	451;451;272;62;451	ENSP00000356403:C451W;ENSP00000356401:C451W;ENSP00000405474:C62W;ENSP00000294725:C451W	ENSP00000294725:C451W	C	-	3	2	KCNT2	194608943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.017000	0.29989	0.792000	0.33850	0.650000	0.86243	TGC	KCNT2	-	pfam_K_chnl_Ca-activ_BK_asu	ENSG00000162687		0.284	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	21	0.00	0	G	NM_198503		196342320	196342320	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	missense	34	34.62	18	SNP	1.000	C
MAP3K1	4214	genome.wustl.edu	37	5	56177802	56177802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr5:56177802delG	ENST00000399503.3	+	14	2775	c.2775delG	c.(2773-2775)gagfs	p.E925fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	925					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CCAGTTCAGAGGACATTTCTG	0.423																																						dbGAP											0													73.0	69.0	70.0					5																	56177802		1896	4121	6017	-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2775delG	5.37:g.56177802delG	ENSP00000382423:p.Glu925fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.D926fs	ENST00000399503.3	37	c.2775	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	35	0.00	0	G	XM_042066		56177802	56177802	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	8	57.89	11	DEL	1.000	-
MFAP4	4239	genome.wustl.edu	37	17	19290122	19290123	+	In_Frame_Ins	INS	-	-	AGC	rs536562220	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr17:19290122_19290123insAGC	ENST00000299610.4	-	2	119_120	c.35_36insGCT	c.(34-36)ctt>ctGCTt	p.12_12L>LL	MFAP4_ENST00000395592.2_In_Frame_Ins_p.36_36L>LL|MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_In_Frame_Ins_p.37_37L>LL	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	12					cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCGTGGAGAGAAGCAGCAGCAG	0.649														9	0.00179712	0.0	0.0014	5008	,	,		13294	0.0		0.003	False		,,,				2504	0.0051					dbGAP											0									,	3,4063		1,1,2031					,	-8.1	0.1			10	91,7861		7,77,3892	no	coding,coding	MFAP4	NM_002404.2,NM_001198695.1	,	8,78,5923	A1A1,A1R,RR		1.1444,0.0738,0.7822	,	,		94,11924				-	-	-	SO:0001652	inframe_insertion	0			L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.33_35dupGCT	17.37:g.19290129_19290131dupAGC	ENSP00000299610:p.Leu13dup	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAJ1|A8MVM2|B4E317|Q6P680	In_Frame_Ins	INS	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.38in_frame_insL	ENST00000299610.4	37	c.108_107	CCDS11208.1	17																																																																																			MFAP4	-	NULL	ENSG00000166482		0.649	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP4	HGNC	protein_coding	OTTHUMT00000132493.2	14	0.00	0	-	NM_002404		19290122	19290123	-1	no_errors	ENST00000395592	ensembl	human	known	69_37n	in_frame_ins	3	87.50	21	INS	0.022:0.253	AGC
MFGE8	4240	genome.wustl.edu	37	15	89444793	89444793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr15:89444793G>A	ENST00000566497.1	-	6	920	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	MFGE8_ENST00000268150.8_Nonsense_Mutation_p.Q287*|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.Q287*|MFGE8_ENST00000542878.1_Nonsense_Mutation_p.Q243*|MFGE8_ENST00000539437.1_Nonsense_Mutation_p.Q279*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	287	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCAGCCACTGATCGTTACCG	0.607																																						dbGAP											0													76.0	60.0	66.0					15																	89444793		2200	4299	6499	-	-	-	SO:0001587	stop_gained	0			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.859C>T	15.37:g.89444793G>A	ENSP00000456281:p.Gln287*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q287*	ENST00000566497.1	37	c.859	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651079	0.47362	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	.	.	.	5.38	4.46	0.54185	.	0.101317	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-38.8306	13.7525	0.62917	0.0:0.6928:0.3072:0.0	.	.	.	.	X	287;287;279;243	.	ENSP00000268150:Q287X	Q	-	1	0	MFGE8	87245797	0.998000	0.40836	0.841000	0.33234	0.076000	0.17211	3.894000	0.56250	1.276000	0.44395	-0.535000	0.04281	CAG	MFGE8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000140545		0.607	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1	57	0.00	0	G	NM_005928		89444793	89444793	-1	no_errors	ENST00000268150	ensembl	human	known	69_37n	nonsense	50	41.86	36	SNP	0.973	A
ODF2	4957	genome.wustl.edu	37	9	131223278	131223278	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr9:131223278G>A	ENST00000434106.3	+	4	544	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ODF2_ENST00000372791.3_Missense_Mutation_p.V61M|ODF2_ENST00000444119.2_Missense_Mutation_p.V56M|ODF2_ENST00000393533.2_Missense_Mutation_p.V61M|ODF2_ENST00000546203.1_Missense_Mutation_p.V61M|ODF2_ENST00000372814.3_Missense_Mutation_p.V105M|ODF2_ENST00000448249.3_Missense_Mutation_p.V56M|ODF2_ENST00000372807.5_Missense_Mutation_p.V56M|ODF2_ENST00000535026.1_Missense_Mutation_p.V56M|ODF2_ENST00000393527.3_Missense_Mutation_p.V56M|ODF2_ENST00000351030.3_Missense_Mutation_p.V56M|ODF2_ENST00000604420.1_Missense_Mutation_p.V61M	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	61					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GAGTGTCCGGGTGAAAACCAA	0.562																																						dbGAP											0													117.0	109.0	112.0					9																	131223278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.181G>A	9.37:g.131223278G>A	ENSP00000403453:p.Val61Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.V61M	ENST00000434106.3	37	c.181	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443921	0.83993	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000535026;ENST00000421776;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T;T;T;T;T	0.40225	1.1;1.13;1.46;1.54;1.67;1.08;1.67;1.54;1.06;1.04	5.76	5.76	0.90799	.	0.164450	0.52532	D	0.000062	T	0.55970	0.1954	L	0.36672	1.1	0.50632	D	0.999885	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.87578	0.994;0.983;0.994;0.994;0.994;0.991;0.953;0.998;0.994;0.964	T	0.46303	-0.9201	10	0.30854	T	0.27	-27.5782	18.5213	0.90954	0.0:0.0:1.0:0.0	.	61;56;56;14;61;105;56;61;61;56	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	M	61;105;56;61;56;56;56;56;56;61;61;61;61;61	ENSP00000377166:V61M;ENSP00000361901:V105M;ENSP00000342581:V56M;ENSP00000361882:V61M;ENSP00000307781:V56M;ENSP00000396687:V56M;ENSP00000394506:V56M;ENSP00000403453:V61M;ENSP00000437579:V61M;ENSP00000361877:V61M	ENSP00000307781:V56M	V	+	1	0	ODF2	130263099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.573000	0.74009	2.715000	0.92844	0.561000	0.74099	GTG	ODF2	-	NULL	ENSG00000136811		0.562	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	35	0.00	0	G			131223278	131223278	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	1.000	A
OR2L2	26246	genome.wustl.edu	37	1	248201808	248201808	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:248201808T>C	ENST00000366479.2	+	1	335	c.239T>C	c.(238-240)aTg>aCg	p.M80T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTTCCAAAGAtggtttatgat	0.413																																						dbGAP											0													239.0	217.0	224.0					1																	248201808		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.239T>C	1.37:g.248201808T>C	ENSP00000355435:p.Met80Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3T5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M80T	ENST00000366479.2	37	c.239	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	6.485	0.457594	0.12342	.	.	ENSG00000203663	ENST00000366479	T	0.05996	3.36	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001749	T	0.10852	0.0265	M	0.74881	2.28	0.09310	N	1	P	0.50066	0.931	P	0.48089	0.566	T	0.10337	-1.0634	10	0.66056	D	0.02	.	4.5193	0.11952	0.0:0.2689:0.0:0.7311	.	80	Q8NH16	OR2L2_HUMAN	T	80	ENSP00000355435:M80T	ENSP00000355435:M80T	M	+	2	0	OR2L2	246268431	0.001000	0.12720	0.034000	0.17996	0.135000	0.20990	0.871000	0.28023	0.746000	0.32786	0.163000	0.16589	ATG	OR2L2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000203663		0.413	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	177	0.00	0	T	NM_001004686		248201808	248201808	+1	no_errors	ENST00000366479	ensembl	human	known	69_37n	missense	202	29.12	83	SNP	0.004	C
PCDHA13	56136	genome.wustl.edu	37	5	140263790	140263790	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr5:140263790G>A	ENST00000289272.2	+	1	1937	c.1937G>A	c.(1936-1938)cGc>cAc	p.R646H	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R646H|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCACCACCGCCTTCTGGTG	0.711																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0													49.0	50.0	50.0					5																	140263790		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1937G>A	5.37:g.140263790G>A	ENSP00000289272:p.Arg646His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R646H	ENST00000289272.2	37	c.1937	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491268	0.12702	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51817	0.69;0.69	3.97	2.07	0.26955	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41351	0.1155	L	0.53729	1.69	0.09310	N	1	B;P;B	0.38167	0.422;0.621;0.369	B;B;B	0.39068	0.056;0.209;0.289	T	0.40079	-0.9582	9	0.72032	D	0.01	.	5.6873	0.17811	0.0855:0.1382:0.6349:0.1415	.	646;646;646	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	646	ENSP00000386821:R646H;ENSP00000289272:R646H	ENSP00000289272:R646H	R	+	2	0	PCDHA13	140243974	0.000000	0.05858	0.976000	0.42696	0.149000	0.21700	-0.301000	0.08232	2.025000	0.59659	0.655000	0.94253	CGC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.711	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	83	0.00	0	G	NM_018904		140263790	140263790	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	46	64.66	86	SNP	0.025	A
PIK3CA	5290	genome.wustl.edu	37	3	178948136	178948136	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr3:178948136G>A	ENST00000263967.3	+	20	3065	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	970	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E970K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGAGCCCAAGAATGCACAAA	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(2)|breast(2)											74.0	73.0	73.0					3																	178948136		1810	4078	5888	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2908G>A	3.37:g.178948136G>A	ENSP00000263967:p.Glu970Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E970K	ENST00000263967.3	37	c.2908	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857176	0.32791	.	.	ENSG00000121879	ENST00000263967	D	0.83163	-1.69	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.790110	0.11564	N	0.551400	T	0.73202	0.3557	N	0.20304	0.555	0.80722	D	1	P	0.45428	0.858	B	0.41764	0.366	T	0.70099	-0.4965	10	0.02654	T	1	-19.3479	18.6208	0.91321	0.0:0.0:1.0:0.0	.	970	P42336	PK3CA_HUMAN	K	970	ENSP00000263967:E970K	ENSP00000263967:E970K	E	+	1	0	PIK3CA	180430830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.459000	0.83118	0.585000	0.79938	GAA	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	30	0.00	0	G			178948136	178948136	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	A
PRDM16	63976	genome.wustl.edu	37	1	3328444	3328444	+	Silent	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:3328444C>T	ENST00000270722.5	+	9	1732	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	PRDM16_ENST00000514189.1_Silent_p.A562A|PRDM16_ENST00000378391.2_Silent_p.A561A|PRDM16_ENST00000442529.2_Silent_p.A561A|PRDM16_ENST00000441472.2_Silent_p.A561A|PRDM16_ENST00000511072.1_Silent_p.A562A|PRDM16_ENST00000378398.3_Silent_p.A562A|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	561					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.A561A(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGTCTCCGCCGTCAGCAACA	0.667			T	EVI1	"""MDS, AML"""																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - coding silent(1)	lung(1)											27.0	37.0	33.0					1																	3328444		1990	4146	6136	-	-	-	SO:0001819	synonymous_variant	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1683C>T	1.37:g.3328444C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A561	ENST00000270722.5	37	c.1683	CCDS41236.2	1																																																																																			PRDM16	-	NULL	ENSG00000142611		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	45	0.00	0	C	NM_022114		3328444	3328444	+1	no_errors	ENST00000270722	ensembl	human	known	69_37n	silent	70	16.67	14	SNP	0.000	T
PINK1	65018	genome.wustl.edu	37	1	20977380	20977380	+	3'UTR	SNP	T	T	C	rs1043443	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr1:20977380T>C	ENST00000321556.4	+	0	2036				PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1						activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACAGACATCTGAAAAGTGAA	0.557													T|||	1503	0.30012	0.2451	0.1916	5008	,	,		23317	0.3571		0.2922	False		,,,				2504	0.4008				Esophageal Squamous(145;853 1803 8146 34412 35011)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.*196T>C	1.37:g.20977380T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6T9|Q8NBU3|Q96DE4	RNA	SNP	-	NULL	ENST00000321556.4	37	NULL	CCDS211.1	1																																																																																			PINK1	-	-	ENSG00000158828		0.557	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	10	0.00	0	T	NM_032409		20977380	20977380	+1	no_errors	ENST00000400490	ensembl	human	known	69_37n	rna	13	35.00	7	SNP	0.016	C
RBL2	5934	genome.wustl.edu	37	16	53524699	53524699	+	3'UTR	SNP	C	C	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr16:53524699C>G	ENST00000262133.6	+	0	4044				RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2						chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGGAGAGCACACCCAGGTTT	0.463																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.*487C>G	16.37:g.53524699C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z913|Q15073|Q16084|Q8NE70|Q92812	RNA	SNP	-	NULL	ENST00000262133.6	37	NULL	CCDS10748.1	16																																																																																			RBL2	-	-	ENSG00000103479		0.463	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	32	0.00	0	C	NM_005611		53524699	53524699	+1	no_errors	ENST00000379935	ensembl	human	known	69_37n	rna	14	60.00	21	SNP	0.000	G
SERTAD3	29946	genome.wustl.edu	37	19	40947664	40947664	+	Silent	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr19:40947664C>T	ENST00000322354.3	-	2	820	c.324G>A	c.(322-324)ggG>ggA	p.G108G	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Silent_p.G108G	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	108					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGCTCAGTCCCATCCATGG	0.607																																						dbGAP											0													49.0	52.0	51.0					19																	40947664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.324G>A	19.37:g.40947664C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQB3|Q96CQ2	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.G108	ENST00000322354.3	37	c.324	CCDS12558.1	19																																																																																			SERTAD3	-	NULL	ENSG00000167565		0.607	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	37	0.00	0	C	NM_013368		40947664	40947664	-1	no_errors	ENST00000322354	ensembl	human	known	69_37n	silent	34	42.37	25	SNP	0.227	T
SIK3	23387	genome.wustl.edu	37	11	116827720	116827720	+	Missense_Mutation	SNP	G	G	A	rs267602706		TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr11:116827720G>A	ENST00000292055.4	-	2	195	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	SIK3_ENST00000542607.1_Missense_Mutation_p.R54W|SIK3_ENST00000446921.2_Missense_Mutation_p.R112W|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.R112W	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAACTTCCCGGAAAATCTTC	0.398																																						dbGAP											0													217.0	235.0	229.0					11																	116827720		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.160C>T	11.37:g.116827720G>A	ENSP00000292055:p.Arg54Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.R112W	ENST00000292055.4	37	c.334	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.283029|4.283029	0.80692|0.80692	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.36815	.|U	.|0.002383	T|T	0.61800|0.61800	0.2376|0.2376	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.66909|0.66909	-0.5804|-0.5804	5|10	.|0.87932	.|D	.|0	.|.	13.6865|13.6865	0.62520|0.62520	0.0:0.0:0.7494:0.2506|0.0:0.0:0.7494:0.2506	.|.	.|54;54	.|A1A5A8;Q9Y2K2	.|.;SIK3_HUMAN	L|W	105;76;14|112;54;54	.|ENSP00000364449:R112W;ENSP00000292055:R54W;ENSP00000438108:R54W	.|ENSP00000292055:R54W	P|R	-|-	2|1	0|2	SIK3|SIK3	116332930|116332930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.962000|3.962000	0.56766|0.56766	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCG|CGG	SIK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160584		0.398	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		39	0.00	0	G	NM_025164		116827720	116827720	-1	no_errors	ENST00000375300	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	A
SLC22A1	6580	genome.wustl.edu	37	6	160577016	160577016	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr6:160577016G>T	ENST00000366963.4	+	10	1655	c.1508G>T	c.(1507-1509)gGc>gTc	p.G503V	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Silent_p.G465G	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	503					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	GCGGTGTTGGGCCTGCTTGCC	0.527																																						dbGAP											0													173.0	171.0	172.0					6																	160577016		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1508G>T	6.37:g.160577016G>T	ENSP00000355930:p.Gly503Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G503V	ENST00000366963.4	37	c.1508	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944201	0.34283	.	.	ENSG00000175003	ENST00000366963	T	0.58210	0.35	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.063724	0.64402	D	0.000009	T	0.59445	0.2194	.	.	.	0.80722	D	1	D	0.60575	0.988	P	0.62560	0.904	T	0.61589	-0.7032	9	0.45353	T	0.12	.	13.1239	0.59342	0.0:0.0:1.0:0.0	.	503	O15245	S22A1_HUMAN	V	503	ENSP00000355930:G503V	ENSP00000355930:G503V	G	+	2	0	SLC22A1	160497006	1.000000	0.71417	0.631000	0.29282	0.060000	0.15804	3.000000	0.49481	2.208000	0.71279	0.655000	0.94253	GGC	SLC22A1	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000175003		0.527	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	82	0.00	0	G			160577016	160577016	+1	no_errors	ENST00000366963	ensembl	human	known	69_37n	missense	64	21.69	18	SNP	0.795	T
RPL30	6156	genome.wustl.edu	37	8	99054661	99054661	+	Intron	SNP	C	C	A	rs184031846	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr8:99054661C>A	ENST00000521291.1	-	3	445				RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_Intron|KB-1208A12.3_ENST00000501016.2_RNA|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000287038.3_Intron|RPL30_ENST00000396070.2_Intron			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CATTATCTGACAGTAAAAATT	0.289													C|||	33	0.00658946	0.0	0.0014	5008	,	,		17596	0.0		0.0089	False		,,,				2504	0.0235					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+211G>T	8.37:g.99054661C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R591|P04645|Q502Z6	RNA	SNP	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																			KB-1208A12.3	-	-	ENSG00000245970		0.289	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	Clone_based_vega_gene	protein_coding	OTTHUMT00000380450.1	9	0.00	0	C			99054661	99054661	+1	no_errors	ENST00000501016	ensembl	human	known	69_37n	rna	2	66.67	4	SNP	0.000	A
SNX25	83891	genome.wustl.edu	37	4	186284580	186284580	+	Silent	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr4:186284580G>A	ENST00000504273.1	+	19	2778	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Silent_p.L828L			Q9H3E2	SNX25_HUMAN	sorting nexin 25	828					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTCCTGAGCTGAGAGTTCATT	0.368																																						dbGAP											0													95.0	93.0	94.0					4																	186284580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2484G>A	4.37:g.186284580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.L828	ENST00000504273.1	37	c.2484	CCDS34116.1	4																																																																																			SNX25	-	NULL	ENSG00000109762		0.368	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	45	0.00	0	G	NM_031953		186284580	186284580	+1	no_errors	ENST00000264694	ensembl	human	known	69_37n	silent	40	42.03	29	SNP	0.962	A
SPEG	10290	genome.wustl.edu	37	2	220312892	220312892	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr2:220312892C>G	ENST00000312358.7	+	4	1144	c.1012C>G	c.(1012-1014)Cgc>Ggc	p.R338G	SPEG_ENST00000396698.1_Missense_Mutation_p.R234G|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	338	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCCACCGTCGCACTCAGGA	0.736																																						dbGAP											0													10.0	13.0	12.0					2																	220312892		1906	4076	5982	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1012C>G	2.37:g.220312892C>G	ENSP00000311684:p.Arg338Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R338G	ENST00000312358.7	37	c.1012	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	7.307	0.614252	0.14129	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000431523;ENST00000396698	T;T;T	0.64260	-0.09;0.8;0.27	4.22	2.18	0.27775	.	0.632836	0.12832	N	0.435571	T	0.39784	0.1091	N	0.14661	0.345	0.28451	N	0.916357	B	0.32203	0.36	B	0.31495	0.131	T	0.36504	-0.9745	10	0.66056	D	0.02	.	3.8865	0.09100	0.272:0.513:0.0:0.215	.	338	Q15772	SPEG_HUMAN	G	338;338;185;234	ENSP00000311684:R338G;ENSP00000410986:R185G;ENSP00000379926:R234G	ENSP00000265327:R338G	R	+	1	0	SPEG	220021136	1.000000	0.71417	0.963000	0.40424	0.475000	0.33008	3.577000	0.53885	0.968000	0.38212	0.563000	0.77884	CGC	SPEG	-	NULL	ENSG00000072195		0.736	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	32	0.00	0	C	NM_005876		220312892	220312892	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	30	25.00	10	SNP	0.203	G
SYNDIG1	79953	genome.wustl.edu	37	20	24524112	24524112	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr20:24524112G>A	ENST00000376862.3	+	2	1012	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	127					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AGACAGCCTCGAGTACCCGGA	0.597																																						dbGAP											0													78.0	81.0	80.0					20																	24524112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.379G>A	20.37:g.24524112G>A	ENSP00000366058:p.Glu127Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.E127K	ENST00000376862.3	37	c.379	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937822	0.52972	.	.	ENSG00000101463	ENST00000376862	D	0.91521	-2.86	5.61	5.61	0.85477	.	0.380745	0.28317	N	0.015798	D	0.88651	0.6494	M	0.66939	2.045	0.33949	D	0.644183	B	0.32128	0.357	B	0.16289	0.015	D	0.91487	0.5209	10	0.54805	T	0.06	-24.4118	17.1195	0.86698	0.0:0.0:1.0:0.0	.	127	Q9H7V2	SYNG1_HUMAN	K	127	ENSP00000366058:E127K	ENSP00000366058:E127K	E	+	1	0	SYNDIG1	24472112	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	5.366000	0.66122	2.651000	0.90000	0.655000	0.94253	GAG	SYNDIG1	-	NULL	ENSG00000101463		0.597	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	58	0.00	0	G	NM_024893		24524112	24524112	+1	no_errors	ENST00000376862	ensembl	human	known	69_37n	missense	32	46.67	28	SNP	1.000	A
TMPRSS7	344805	genome.wustl.edu	37	3	111757148	111757148	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr3:111757148C>G	ENST00000452346.2	+	2	281	c.278C>G	c.(277-279)aCa>aGa	p.T93R	TMPRSS7_ENST00000419127.1_5'Flank			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	93					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAGCCTGGACACTTCTGTGG	0.388																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.278C>G	3.37:g.111757148C>G	ENSP00000398236:p.Thr93Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.T93R	ENST00000452346.2	37	c.278		3	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262141	0.59431	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906	D	0.89552	-2.53	5.23	5.23	0.72850	.	.	.	.	.	D	0.91369	0.7277	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89675	0.3886	6	0.32370	T	0.25	.	16.0866	0.81060	0.0:1.0:0.0:0.0	.	.	.	.	R	93;80;80	ENSP00000398236:T93R	ENSP00000411595:T80R	T	+	2	0	TMPRSS7	113239838	0.988000	0.35896	0.973000	0.42090	0.987000	0.75469	2.860000	0.48372	2.607000	0.88179	0.563000	0.77884	ACA	TMPRSS7	-	NULL	ENSG00000176040		0.388	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	27	0.00	0	C	XM_293599		111757148	111757148	+1	no_errors	ENST00000452346	ensembl	human	novel	69_37n	missense	21	22.22	6	SNP	0.993	G
TRPM1	4308	genome.wustl.edu	37	15	31332453	31332453	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr15:31332453C>A	ENST00000256552.6	-	18	2331	c.2184G>T	c.(2182-2184)tgG>tgT	p.W728C	TRPM1_ENST00000542188.1_Missense_Mutation_p.W745C|TRPM1_ENST00000397795.2_Missense_Mutation_p.W706C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCGAGTTGCTCCAGTTTTTCA	0.527																																						dbGAP											0													79.0	84.0	83.0					15																	31332453		2165	4287	6452	-	-	-	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2184G>T	15.37:g.31332453C>A	ENSP00000256552:p.Trp728Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.W745C	ENST00000256552.6	37	c.2235	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385379	0.82792	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	D;D;D	0.87966	-2.32;-2.32;-2.32	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95809	0.8840	10	0.87932	D	0	-9.8062	18.4798	0.90807	0.0:1.0:0.0:0.0	.	700;706	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	706;745;728;706	ENSP00000380897:W706C;ENSP00000437849:W745C;ENSP00000256552:W728C	ENSP00000256552:W728C	W	-	3	0	TRPM1	29119745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.361000	0.80049	0.655000	0.94253	TGG	TRPM1	-	NULL	ENSG00000134160		0.527	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	64	0.00	0	C	NM_002420		31332453	31332453	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	A
TRPV5	56302	genome.wustl.edu	37	7	142626581	142626581	+	Silent	SNP	G	G	C			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr7:142626581G>C	ENST00000265310.1	-	4	777	c.429C>G	c.(427-429)gtC>gtG	p.V143V	TRPV5_ENST00000442623.1_Silent_p.V143V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	143					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V143V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCTGGCAGAGACACTGGCCC	0.602																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											87.0	77.0	80.0					7																	142626581		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.429C>G	7.37:g.142626581G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.V143	ENST00000265310.1	37	c.429	CCDS5875.1	7																																																																																			TRPV5	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000127412		0.602	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	38	0.00	0	G	NM_019841		142626581	142626581	-1	no_errors	ENST00000265310	ensembl	human	known	69_37n	silent	39	35.00	21	SNP	0.997	C
TYRO3	7301	genome.wustl.edu	37	15	41865525	41865525	+	Missense_Mutation	SNP	G	G	T	rs62001448	byFrequency	TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr15:41865525G>T	ENST00000263798.3	+	17	2229	c.2005G>T	c.(2005-2007)Gtg>Ttg	p.V669L	TYRO3_ENST00000559066.1_Missense_Mutation_p.V624L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGACATGACAGTGTGTGTGGC	0.562																																						dbGAP											0													209.0	211.0	211.0					15																	41865525		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2005G>T	15.37:g.41865525G>T	ENSP00000263798:p.Val669Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V669L	ENST00000263798.3	37	c.2005	CCDS10080.1	15	177	0.08104395604395605	12	0.024390243902439025	34	0.09392265193370165	11	0.019230769230769232	120	0.158311345646438	G	28.2	4.901936	0.92035	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.85861	-2.04	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.436224	0.16821	N	0.198144	T	0.03136	0.0092	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54715	-0.8252	10	0.87932	D	0	-8.3883	19.5084	0.95130	0.0:0.0:1.0:0.0	rs62001448	669	Q06418	TYRO3_HUMAN	L	601;669	ENSP00000263798:V669L	ENSP00000263798:V669L	V	+	1	0	TYRO3	39652817	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	9.869000	0.99810	2.612000	0.88384	0.655000	0.94253	GTG	TYRO3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000092445		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	35	0.00	0	G			41865525	41865525	+1	no_errors	ENST00000263798	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	T
UVRAG	7405	genome.wustl.edu	37	11	75623074	75623074	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A4SB-01A-21D-A25Q-09	TCGA-A7-A4SB-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ec022e6-a735-448d-86b4-2854b80669f6	7888d0dc-9a75-417a-8dd6-3897de85f24b	g.chr11:75623074C>T	ENST00000356136.3	+	6	825	c.584C>T	c.(583-585)tCt>tTt	p.S195F	RP11-263C24.1_ENST00000531215.1_RNA|UVRAG_ENST00000528420.1_Missense_Mutation_p.S94F|UVRAG_ENST00000525872.1_3'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	195					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATGTCTTCTCTTTGCTACGG	0.358																																						dbGAP											0													167.0	166.0	167.0					11																	75623074		2200	4293	6493	-	-	-	SO:0001583	missense	0			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.584C>T	11.37:g.75623074C>T	ENSP00000348455:p.Ser195Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S195F	ENST00000356136.3	37	c.584	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789296	0.70337	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.51071	0.72	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66960	-0.5791	10	0.72032	D	0.01	-13.1302	14.3671	0.66812	0.0:1.0:0.0:0.0	.	195	Q9P2Y5	UVRAG_HUMAN	F	195;94;94	ENSP00000348455:S195F	ENSP00000348455:S195F	S	+	2	0	UVRAG	75300722	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.769000	0.47654	2.764000	0.94973	0.650000	0.86243	TCT	UVRAG	-	NULL	ENSG00000198382		0.358	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	42	0.00	0	C	NM_003369		75623074	75623074	+1	no_errors	ENST00000356136	ensembl	human	known	69_37n	missense	19	96.23	485	SNP	1.000	T
